Linked Data
ClinVar Variation Id:
2198452
dbSNP Id:
rs145939630
ExAC:
7:138417691 G / A
gnomAD v2:
7-138417691-G-A
gnomAD v3:
7-138732946-G-A
gnomAD v4:
7-138732946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138732946G>A , CM000669.2:g.138732946G>A | GRCh38 |
| NC_000007.13:g.138417691G>A , CM000669.1:g.138417691G>A | GRCh37 |
| NC_000007.12:g.138068231G>A | NCBI36 |
| NG_008145.1:g.70251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.1839C>T MANE Select | ENSP00000308122.2:p.Leu613= | |
| ENST00000478480.2:c.1065C>T | ENSP00000495261.1:p.Leu355= | |
| ENST00000644341.1:c.1065C>T | ENSP00000495642.1:p.Leu355= | |
| ENST00000645515.1:c.1839C>T | ENSP00000496421.1:p.Leu613= | |
| ENST00000647427.1:c.732C>T | ENSP00000496259.1:p.Leu244= | |
| ENST00000310018.6:c.1839C>T | ENSP00000308122.2:p.Leu613= | |
| ENST00000353492.4:c.1839C>T | ENSP00000253856.6:p.Leu613= | |
| ENST00000393054.5:c.1839C>T | ENSP00000376774.1:p.Leu613= | |
| NM_020632.2:c.1839C>T | NP_065683.2:p.Leu613= | |
| NM_130840.2:c.1839C>T | NP_570855.2:p.Leu613= | |
| NM_130841.2:c.1839C>T | NP_570856.2:p.Leu613= | |
| XM_005250393.1:c.1839C>T | XP_005250450.1:p.Leu613= | |
| XM_005250394.2:c.1839C>T | XP_005250451.1:p.Leu613= | |
| XM_005250394.3:c.1839C>T | XP_005250451.1:p.Leu613= | |
| NM_020632.3:c.1839C>T MANE Select | NP_065683.2:p.Leu613= | |
| NM_130840.3:c.1839C>T | NP_570855.2:p.Leu613= | |
| NM_130841.3:c.1839C>T | NP_570856.2:p.Leu613= |